What is Sturge-Weber Syndrome?
Sturge-Weber Syndrome is a rare vascular disorder that causes excessive blood vessel growth in the brain. This can affect the skin, eyes, and neurological system. It is typically characterized by a congenital facial birthmark, called a port-wine stain, on the eye, forehead, or upper face near where there are an overabundance of capillaries near the surface of the skin. The abnormal blood vessels can cause other issues, such as eye abnormalities, including glaucoma. It is not fatal, but there is no cure.
Causes of Sturge-Weber Syndrome
Researchers attribute Sturge-Weber Syndrome to a mutation in the GNAQ gene, which affects small blood vessels called capillaries. The condition is not hereditary.
Symptoms of Sturge-Weber Syndrome
In addition to the port-wine birthmark, symptoms may include seizures, headaches, weakness, paralysis, hypothyroidism, glaucoma, and developmental delays. Most SWJ patients experience seizures prior to age 1 and also develop hemiparesis, or a weakening on one side of the body. The majority of patients also develop glaucoma because of increased pressure in the eye on the affected side.
Diagnosis of Sturge-Weber Syndrome
If your baby is born with a port wine birthmark, the doctor will likely order an MRI or CT scan to look at the blood vessels in the area. Only about 5% of with the birthmark also have neurological symptoms. An EEG and comprehensive eye exam may also be conducted.
Treatment for Sturge-Weber Syndrome
Sturge-Weber Syndrome treatment focuses on managing symptoms. Laser treatment resurfacing sessions can be used to destroy the abnormal blood vessels so that the birthmark is lightened or removed without damaging the skin. Medications can be used to control seizures and glaucoma. In more serious cases of both conditions, surgery may help. Physical therapy may be needed for muscle weakness and other treatments may be considered for developmental or learning delays. Regular eye exams will be needed to treat and monitor glaucoma.
What you can expect at UTHealth Neurosciences
UTHealth Neurosciences brings together a multidisciplinary team of board-certified, fellowship-trained neurosurgeons, neurologists, researchers, and pain management specialists to help provide relief for even the most complex problems. Your team will share insights, leading to better treatment decisions and outcomes. You will receive expert care, excellent communication, and genuine compassion.
We first investigate nonsurgical treatment options, including medical management, pain management, physical therapy, rehabilitation, and watchful waiting. When surgery is needed, our neurosurgeons routinely employ innovative minimally invasive techniques. Throughout the treatment process, we will work closely with the doctor who referred you to ensure a smooth transition back to your regular care. While you are with us, you will receive expert care, excellent communication, and genuine compassion.
At UTHealth Houston Neurosciences, we offer patients access to specialized neurological care at clinics across the greater Houston area. To ask us a question, schedule an appointment, or learn more about us, please call (713) 486-8000, or click below to send us a message. In the event of an emergency, call 911 or go to the nearest Emergency Room.